KH
MCID: KPS002
MIFTS: 43

Kaposiform Hemangioendothelioma (KH)

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Kaposiform Hemangioendothelioma

MalaCards integrated aliases for Kaposiform Hemangioendothelioma:

Name: Kaposiform Hemangioendothelioma 52 58 6 71
Congenital Cutaneous Multifocal Kaposiform Hemangioendothelioma 52
Kaposiform Hemangio-Endothelioma 52
Khe 52
Kh 52

Characteristics:

Orphanet epidemiological data:

58
kaposiform hemangioendothelioma
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 C537007
ICD10 via Orphanet 33 D18.0
UMLS via Orphanet 72 C1367420
Orphanet 58 ORPHA2122
UMLS 71 C1367420

Summaries for Kaposiform Hemangioendothelioma

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2122 Definition A very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions. Visit the Orphanet disease page for more resources.

MalaCards based summary : Kaposiform Hemangioendothelioma, also known as congenital cutaneous multifocal kaposiform hemangioendothelioma, is related to hemangioendothelioma and spindle cell hemangioma. An important gene associated with Kaposiform Hemangioendothelioma is GNA14 (G Protein Subunit Alpha 14), and among its related pathways/superpathways are Phospholipase-C Pathway and p70S6K Signaling. The drugs Tacrolimus and Calcineurin Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include endothelial, bone and skin, and related phenotypes are cardiovascular system and cellular

Wikipedia : 74 A vascular tumor is a tumor of vascular origin; a soft tissue growth that can be either benign or... more...

Related Diseases for Kaposiform Hemangioendothelioma

Diseases related to Kaposiform Hemangioendothelioma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 233)
# Related Disease Score Top Affiliating Genes
1 hemangioendothelioma 31.8 FLT4 FLI1 CD34
2 spindle cell hemangioma 30.9 PROX1 GNA14
3 kaposi sarcoma 30.5 MTOR KDR FLT4
4 thrombocytopenia 30.0 VWF PECAM1 FLI1 CD34
5 hemangiopericytoma, malignant 29.8 PECAM1 CD34
6 sarcoma 29.4 MTOR KDR FLT4 FLI1
7 lymphangioma 29.2 PROX1 PECAM1 KDR FLT4 CD34
8 intussusception 29.0 PECAM1 KDR FLT4 CD34
9 kidney cancer 28.9 MTOR KDR FLT4
10 capillary hemangioma 28.5 VWF PROX1 PECAM1 KDR GNA14 FLT4
11 clear cell renal cell carcinoma 28.4 PECAM1 MTOR KDR FLT4
12 vascular cancer 28.2 VWF PROX1 PECAM1 KDR FLT4 FLI1
13 renal cell carcinoma, nonpapillary 28.1 PECAM1 MTOR KDR FLT4
14 hemangioma 27.7 VWF PROX1 PECAM1 MTOR KDR GNA14
15 hemangioma-thrombocytopenia syndrome 11.9
16 angioma, tufted 11.9
17 rare vascular tumor 10.8
18 lymphangiomatosis 10.7
19 rare lymphatic malformation 10.5
20 fragile x syndrome 10.5
21 rare tumor 10.4
22 hereditary lymphedema i 10.4
23 disseminated intravascular coagulation 10.4
24 obstructive jaundice 10.4
25 intestinal obstruction 10.4
26 pyogenic granuloma 10.4
27 leukemia 10.3
28 lymphoma 10.3
29 scoliosis 10.3
30 respiratory failure 10.3
31 spindle cell sarcoma 10.3
32 hemolytic anemia 10.3
33 congenital hemangioma 10.3
34 coronary heart disease 1 10.2
35 hereditary lymphedema ii 10.2 PROX1 FLT4
36 chylothorax, congenital 10.2 PROX1 FLT4
37 papillary adenofibroma 10.2 VWF CD34
38 polykaryocytosis inducer 10.2
39 aplasia cutis congenita, nonsyndromic 10.1
40 autoimmune disease 10.1
41 laryngomalacia 10.1
42 rheumatoid arthritis 10.1
43 tuberous sclerosis 1 10.1
44 volvulus of midgut 10.1
45 ascites, chylous 10.1
46 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
47 hydrops fetalis, nonimmune 10.1
48 yemenite deaf-blind hypopigmentation syndrome 10.1
49 human herpesvirus 8 10.1
50 hereditary lymphedema 10.1

Graphical network of the top 20 diseases related to Kaposiform Hemangioendothelioma:



Diseases related to Kaposiform Hemangioendothelioma

Symptoms & Phenotypes for Kaposiform Hemangioendothelioma

MGI Mouse Phenotypes related to Kaposiform Hemangioendothelioma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 FLI1 FLT4 KDR MTOR PECAM1 PROX1
2 cellular MP:0005384 9.87 CD34 FLI1 KDR MTOR PECAM1 PROX1
3 hematopoietic system MP:0005397 9.8 CD34 FLI1 KDR MTOR PECAM1 PROX1
4 immune system MP:0005387 9.76 CD34 FLI1 FLT4 KDR MTOR PECAM1
5 liver/biliary system MP:0005370 9.35 FLI1 FLT4 KDR PECAM1 PROX1
6 muscle MP:0005369 9.1 FLI1 FLT4 KDR MTOR PECAM1 PROX1

Drugs & Therapeutics for Kaposiform Hemangioendothelioma

Drugs for Kaposiform Hemangioendothelioma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
2 Calcineurin Inhibitors Phase 4
3
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
4
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
5
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
6 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
7
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
8
Propranolol Approved, Investigational Phase 2 525-66-6 4946
9
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
10
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
11
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
12
tannic acid Approved Phase 2 1401-55-4
13
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
14
Vincristine Approved, Investigational Phase 2 57-22-7, 2068-78-2 5978
15
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
16 Methylprednisolone Acetate Phase 2
17 Hormones Phase 2
18 Antineoplastic Agents, Hormonal Phase 2
19 Hormone Antagonists Phase 2
20 Antihypertensive Agents Phase 2
21 Adrenergic Agents Phase 2
22 Adrenergic Antagonists Phase 2
23 Vasodilator Agents Phase 2
24 Anti-Arrhythmia Agents Phase 2
25 Adrenergic beta-Antagonists Phase 2
26 glucocorticoids Phase 2
27 Neurotransmitter Agents Phase 2
28 Anti-Inflammatory Agents Phase 2
29 Immunosuppressive Agents Phase 2
30 Immunologic Factors Phase 2
31 Anti-Infective Agents Phase 2
32 Anti-Bacterial Agents Phase 2
33 Antifungal Agents Phase 2
34 Antibiotics, Antitubercular Phase 2
35 Tubulin Modulators Phase 2
36 Antimitotic Agents Phase 2
37
Prednisone Approved, Vet_approved Phase 1 53-03-2 5865
38 Mitogens
39 Endothelial Growth Factors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Tacrolimus for the Treatment of Superficial Kaposiform Hemangioendothelioma and Tufted Angioma: a Single Arm Prospective Study Recruiting NCT04056962 Phase 4 Tacrolimus ointment
2 Safety and Efficacy of Low-dose Sirolimus to Kaposiform Hemangioendothelioma:A Prospective, Randomized Open Trial Recruiting NCT04077515 Phase 4 Sirolimus(0.8mg/m2);Sirolimus(0.7mg/m2)
3 Sirolimus Plus Propranolol Versus Sirolimus Plus Prednisolone for Kaposiform Hemangioendothelioma With Kasabach-Merritt Syndrome Recruiting NCT03188068 Phase 2 Sirolimus;Prednisolone;Propranolol
4 A Randomized Phase 2 Study of Vincristine Versus Sirolimus to Treat High Risk Kaposiform Hemangioendothelioma (KHE). Active, not recruiting NCT02110069 Phase 2 Vincristine;Sirolimus
5 A Clinical Study on the Treatment of Kaposiform Hemangioendothelioma (KHE) With Kasabach-Merritt Phenomenon (KMP) by Hormone Shock and Sirolimus Maintenance Not yet recruiting NCT04409691 Phase 1 prednison and Sirolimus;prednison
6 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180

Search NIH Clinical Center for Kaposiform Hemangioendothelioma

Genetic Tests for Kaposiform Hemangioendothelioma

Anatomical Context for Kaposiform Hemangioendothelioma

MalaCards organs/tissues related to Kaposiform Hemangioendothelioma:

40
Endothelial, Bone, Skin, Spleen, Tongue, Lymph Node, Thymus

Publications for Kaposiform Hemangioendothelioma

Articles related to Kaposiform Hemangioendothelioma:

(show top 50) (show all 290)
# Title Authors PMID Year
1
Reactivation of Kasabach-Merritt phenomenon in a young adult with a congenital kaposiform hemangioendothelioma. 61
32543761 2020
2
Sirolimus for Kaposiform Hemangioendothelioma With Kasabach-Merritt Phenomenon in Two Infants. 61
32176003 2020
3
Analysis of mTOR pathway expression in lymphatic malformation and related diseases. 61
32067331 2020
4
Effective surgical treatment of life-threatening huge vascular anomalies associated with thrombocytopenia and coagulopathy in infants unresponsive to drug therapy. 61
32340603 2020
5
The histopathology of congenital hemangioma and its clinical correlations: a long-term follow-up study of 55 cases. 61
32281140 2020
6
Retroperitoneal kaposiform hemangioendothelioma complicated by Kasabach-Merritt phenomenon and obstructive jaundice: A retrospective series of 3 patients treated with sirolimus. 61
32212177 2020
7
Endothelial cell malignancies in infants, children and adolescents: Treatment results of three Cooperative Weichteilsarkom Studiengruppe (CWS) trials and one registry. 61
31814291 2020
8
Kaposiform hemangioendothelioma and tufted angioma - (epi)genetic analysis including genome-wide methylation profiling. 61
31887709 2020
9
Kaposiform hemangioendothelioma: current knowledge and future perspectives. 61
32014025 2020
10
Sirolimus Treatment of an Infant With Intrathoracic Kaposiform Hemangioendothelioma Complicated by Life-threatening Pleural and Pericardial Effusions. 61
30044355 2020
11
Upper arm life-saving amputation of a 12 day-old neonate due to extensive vascular tumor of the upper extremity. 61
32175905 2020
12
What is new in endothelial neoplasia? 61
31463731 2020
13
Retiform hemangioendothelioma: An uncommon vascular neoplasm. 61
32031140 2020
14
Kaposiform Hemangioendothelioma in Adolescent-Onset Scoliosis: A Case Report and Review of Literature. 61
32089925 2020
15
Immunohistochemical Analysis of mTOR Pathway-Related Proteins in Kaposiform Hemangioendothelioma. 61
31896113 2020
16
Bifocal Tibial Kaposiform Hemangioendothelioma Responsive to Vincristine Therapy: A Case Report. 61
31866667 2019
17
Congenital hemangioma of the face-Value of fetal MRI with prenatal ultrasound. 61
31695833 2019
18
Sirolimus therapy for kaposiform hemangioendothelioma with long-term follow-up. 61
31489702 2019
19
Ultrasonography and magnetic resonance imaging features of kaposiform hemangioendothelioma and tufted angioma. 61
31373042 2019
20
Tacrolimus ointment for the treatment of superficial kaposiform hemangioendothelioma and tufted angioma. 61
31373046 2019
21
Comparison of Corticosteroid and Vincristine in Treating Kaposiform Hemangioendothelioma and Tufted Angioma: A Systematic Review and Meta-Analysis. 61
30372769 2019
22
Population pharmacokinetics of sirolimus in pediatric patients with kaposiform hemangioendothelioma: A retrospective study. 61
31452734 2019
23
A not so harmless mass: Kaposiform hemangioendothelioma complicated by a Kasabach-Merritt phenomenon. 61
31353149 2019
24
Low dose sirolimus treatment for refractory tufted angioma and congenital kaposiform hemangioendothelioma, both with Kasabach-Merritt phenomenon. 61
31087627 2019
25
Kaposiform lymphangiomatosis and kaposiform hemangioendothelioma: similarities and differences. 61
31277673 2019
26
A report on Kaposiform hemangioendothelioma in the cervical spine. 61
30896568 2019
27
Activation of Hedgehog Signaling in Aggressive Hepatic Hemangioma in Newborns and Infants. 61
31092427 2019
28
Pediatric facial kaposiform hemangioendothelioma: a case report and review of the literature. 61
31044058 2019
29
[Our experience with sirolimus for the treatment of complicated vascular anomalies]. 61
30714698 2019
30
Kaposiform Hemangioendothelioma of the GI Tract: An Exception to Occam's Principle in an Adult with SBO. 61
31093393 2019
31
Early Surgery Is Feasible for a Very Large Congenital Infantile Fibrosarcoma Associated With Life Threatening Coagulopathy: A Case Report and Literature Review. 61
31956645 2019
32
Pancreatic kaposiform hemangioendothelioma complicated by Kasabach-Merritt phenomenon: A rare entity. 61
31754542 2019
33
Vascular Anomalies. 61
30396415 2018
34
Kaposiform hemangioendothelioma with Kasabach-Merritt phenomenon in an infant: Successful treatment with prednisolone, vincristine, and addition of sirolimus. 61
30070028 2018
35
Kaposiform hemangioendothelioma without cutaneous involvement. 61
30293120 2018
36
Adult-onset kaposiform hemangioendothelioma with neurofibromatosis type 1: A case report and literature review. 61
30466240 2018
37
Proliferative Cells From Kaposiform Lymphangiomatosis Lesions Resemble Mesenchyme Stem Cell-like Pericytes Defective in Vessel Formation. 61
30256265 2018
38
First Intracardiac Kaposiform Hemangioendothelioma in an Infant Resolved With Sirolimus: A Case Report. 61
30067556 2018
39
Atypically presenting kaposiform hemangioendothelioma of the knee: ultrasound findings. 61
29637402 2018
40
Development of Kasabach-Merritt phenomenon following vaccination: More than a coincidence? 61
30118141 2018
41
Diagnosis of congenital and acquired focal lesions in the neck, abdomen, and pelvis with contrast-enhanced ultrasound: a pictorial essay. 61
29971555 2018
42
Sirolimus as initial therapy for kaposiform hemangioendothelioma and tufted angioma. 61
29999213 2018
43
Frequent GNAQ and GNA14 Mutations in Hepatic Small Vessel Neoplasm. 61
29975248 2018
44
Kaposiform hemangioendothelioma in children: a benign vascular tumor with multiple treatment options. 61
30054848 2018
45
Regional Differences in Clinical Features of Kaposiform Hemangioendothelioma of the Intestinal Tract. 61
29554025 2018
46
Clinical and imaging features of Kaposiform Hemangioendothelioma. 61
29536769 2018
47
Vascular Anomalies: From a Clinicohistologic to a Genetic Framework. 61
29697621 2018
48
Management of Refractory Pediatric Kaposiform Hemangioendothelioma With Sirolimus and Aspirin. 61
29240034 2018
49
A Case Report of 2 Sirolimus-Related Deaths Among Infants With Kaposiform Hemangioendotheliomas. 61
29610165 2018
50
Pneumocystis Jirovecii Pneumonia During Sirolimus Therapy for Kaposiform Hemangioendothelioma. 61
29610164 2018

Variations for Kaposiform Hemangioendothelioma

ClinVar genetic disease variations for Kaposiform Hemangioendothelioma:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNA14 NM_004297.4(GNA14):c.614A>T (p.Gln205Leu)SNV Likely pathogenic 548667 rs1554685903 9:80043932-80043932 9:77429016-77429016

Expression for Kaposiform Hemangioendothelioma

Search GEO for disease gene expression data for Kaposiform Hemangioendothelioma.

Pathways for Kaposiform Hemangioendothelioma

Pathways related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.63 MTOR KDR GNA14 FLT4
2
Show member pathways
12.55 MTOR KDR GNA14 FLT4
3
Show member pathways
12.39 VWF MTOR KDR FLT4
4
Show member pathways
12.12 MTOR KDR FLT4
5
Show member pathways
12 MTOR KDR FLT4
6
Show member pathways
11.52 VWF PECAM1 KDR
7 11.09 KDR FLT4
8 10.97 VWF PROX1 PECAM1 KDR FLT4
9
Show member pathways
10.85 KDR FLT4
10
Show member pathways
10.16 KDR FLT4

GO Terms for Kaposiform Hemangioendothelioma

Biological processes related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.73 PECAM1 KDR FLT4
2 extracellular matrix organization GO:0030198 9.72 VWF PECAM1 KDR
3 protein autophosphorylation GO:0046777 9.69 MTOR KDR FLT4
4 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.54 KDR FLT4
5 sprouting angiogenesis GO:0002040 9.52 KDR FLT4
6 vascular endothelial growth factor signaling pathway GO:0038084 9.49 KDR FLT4
7 endothelial cell differentiation GO:0045446 9.48 PROX1 KDR
8 lymph vessel development GO:0001945 9.46 PROX1 FLT4
9 positive regulation of vasculogenesis GO:2001214 9.43 KDR CD34
10 positive regulation of endothelial cell migration GO:0010595 9.43 PROX1 KDR FLT4
11 lymphangiogenesis GO:0001946 9.4 PROX1 FLT4
12 vascular wound healing GO:0061042 9.37 KDR CD34
13 endothelium development GO:0003158 9.32 KDR CD34
14 positive regulation of protein phosphorylation GO:0001934 9.26 PECAM1 MTOR KDR FLT4
15 glomerular endothelium development GO:0072011 9.16 PECAM1 CD34
16 positive regulation of endothelial cell proliferation GO:0001938 8.92 PROX1 MTOR KDR FLT4

Molecular functions related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor binding GO:0019838 9.16 KDR FLT4
2 vascular endothelial growth factor binding GO:0038085 8.96 KDR FLT4
3 vascular endothelial growth factor-activated receptor activity GO:0005021 8.62 KDR FLT4

Sources for Kaposiform Hemangioendothelioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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